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Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) and the mutant zinc transporter ZIP13

The zinc transporter protein ZIP13 plays crucial roles in bone, tooth, and connective tissue development, and its dysfunction is responsible for the spondylocheirodysplastic form of Ehlers-Danlos syndrome (SCD-EDS, OMIM 612350). We recently reported that the pathogenic mutations in ZIP13 reduce its...

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書目詳細資料
發表在:Rare Dis
Main Authors: Bin, Bum-Ho, Hojyo, Shintaro, Ryong Lee, Tae, Fukada, Toshiyuki
格式: Artigo
語言:Inglês
出版: Taylor & Francis 2014
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4755239/
https://ncbi.nlm.nih.gov/pubmed/26942106
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/21675511.2014.974982
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